Mutagenetix > Incidental Mutation

Incidental Mutation 'R5622:Krt5'

441651

Institutional Source

Beutler Lab

Gene Symbol

Krt5

Ensembl Gene

ENSMUSG00000061527

Gene Name

keratin 5

Synonyms

Tfip8, Krt2-5, 3300001P10Rik, K5

MMRRC Submission

043161-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101615505-101621333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101617470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 421 (D421G)

Ref Sequence

ENSEMBL: ENSMUSP00000023709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023709]

AlphaFold

Q922U2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023709
AA Change: D421G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023709
Gene: ENSMUSG00000061527
AA Change: D421G

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	158	3.6e-44	PFAM
Filament	161	474	1.58e-174	SMART
low complexity region	483	577	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198689

Meta Mutation Damage Score

0.6458

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,546,642 (GRCm39)	S320T	probably benign	Het
Alg8	T	A	7: 97,036,006 (GRCm39)		probably benign	Het
Anp32b	G	A	4: 46,469,930 (GRCm39)	E202K	unknown	Het
Apcdd1	A	G	18: 63,069,973 (GRCm39)		probably null	Het
Apobec2	A	G	17: 48,730,444 (GRCm39)	V74A	possibly damaging	Het
Arid3c	A	T	4: 41,729,959 (GRCm39)	C79S	probably benign	Het
Atp1a2	A	T	1: 172,118,994 (GRCm39)		probably benign	Het
B2m	A	T	2: 121,981,471 (GRCm39)	N62I	probably damaging	Het
Borcs5	T	C	6: 134,663,086 (GRCm39)		probably null	Het
Ccn1	A	G	3: 145,355,075 (GRCm39)	L60P	probably damaging	Het
Cdk11b	A	G	4: 155,714,674 (GRCm39)	K127E	probably damaging	Het
Cep170	T	C	1: 176,563,433 (GRCm39)	H726R	possibly damaging	Het
Col5a2	A	C	1: 45,466,219 (GRCm39)	S190A	probably benign	Het
Cryba4	T	C	5: 112,398,990 (GRCm39)	D5G	probably damaging	Het
Cyp2a5	T	G	7: 26,535,299 (GRCm39)	V87G	probably damaging	Het
Dcaf8	A	G	1: 172,013,965 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,404,500 (GRCm39)	S2681P	probably benign	Het
Ddx20	A	G	3: 105,586,327 (GRCm39)	S673P	probably damaging	Het
Deptor	T	A	15: 55,044,428 (GRCm39)	I198N	probably damaging	Het
Ebf2	T	C	14: 67,628,007 (GRCm39)	I334T	possibly damaging	Het
F5	A	G	1: 164,020,134 (GRCm39)	R870G	probably benign	Het
Flg2	A	C	3: 93,109,871 (GRCm39)	H633P	unknown	Het
Gm11938	T	A	11: 99,494,119 (GRCm39)		probably null	Het
Gm6370	A	G	5: 146,430,708 (GRCm39)	T298A	probably benign	Het
H60b	C	A	10: 22,159,441 (GRCm39)		probably benign	Het
Hsbp1	A	G	8: 120,071,324 (GRCm39)	T4A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,524 (GRCm39)	D266E	possibly damaging	Het
Ift172	T	C	5: 31,440,426 (GRCm39)	Y287C	probably damaging	Het
Il20rb	T	A	9: 100,368,371 (GRCm39)	Q4L	probably benign	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Me3	A	G	7: 89,445,871 (GRCm39)	D196G	probably damaging	Het
Mfsd12	T	A	10: 81,199,461 (GRCm39)	V451E	probably null	Het
Mib1	A	G	18: 10,794,503 (GRCm39)	N663S	possibly damaging	Het
Mtus2	A	T	5: 148,015,244 (GRCm39)	N679I	probably benign	Het
Myt1	A	G	2: 181,438,915 (GRCm39)	T146A	probably benign	Het
Neb	T	A	2: 52,160,281 (GRCm39)	H2244L	probably damaging	Het
Or51l4	T	C	7: 103,404,376 (GRCm39)	T139A	probably damaging	Het
Or5b21	A	C	19: 12,839,663 (GRCm39)	I175L	probably benign	Het
Or5p81	C	T	7: 108,267,289 (GRCm39)	T222I	probably benign	Het
Pabpc4	A	G	4: 123,185,524 (GRCm39)		probably null	Het
Padi1	C	A	4: 140,552,266 (GRCm39)	V393L	probably damaging	Het
Pax2	A	T	19: 44,806,905 (GRCm39)	D300V	probably damaging	Het
Pcgf2	T	C	11: 97,581,078 (GRCm39)	E71G	probably damaging	Het
Pi4kb	A	G	3: 94,906,172 (GRCm39)	Q573R	possibly damaging	Het
Pitpna	T	A	11: 75,511,153 (GRCm39)	M242K	possibly damaging	Het
Pkd1	A	G	17: 24,793,014 (GRCm39)	E1567G	possibly damaging	Het
Plcb2	A	T	2: 118,545,210 (GRCm39)	S630R	probably damaging	Het
Prrt2	A	T	7: 126,618,937 (GRCm39)	V176D	probably benign	Het
Prss1l	A	C	6: 41,373,084 (GRCm39)	N119H	probably damaging	Het
Prss42	T	C	9: 110,628,490 (GRCm39)		probably null	Het
Rhoq	A	G	17: 87,304,459 (GRCm39)	R197G	probably benign	Het
Rin2	A	T	2: 145,702,299 (GRCm39)	T332S	probably benign	Het
Rnps1-ps	C	T	6: 7,982,605 (GRCm39)		noncoding transcript	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Setbp1	T	A	18: 78,900,700 (GRCm39)	Y989F	probably damaging	Het
Slc11a1	G	A	1: 74,420,065 (GRCm39)	G191D	probably damaging	Het
Slc35f5	G	A	1: 125,517,693 (GRCm39)	R497Q	probably damaging	Het
Slf1	T	C	13: 77,198,090 (GRCm39)	K728R	probably benign	Het
Tiparp	T	G	3: 65,454,946 (GRCm39)	S364A	probably benign	Het
Tph1	G	A	7: 46,296,969 (GRCm39)	Q409*	probably null	Het
Trp73	A	T	4: 154,145,049 (GRCm39)	I526N	possibly damaging	Het
Ttc9c	G	A	19: 8,793,332 (GRCm39)	R103*	probably null	Het
Vmn2r75	T	A	7: 85,797,702 (GRCm39)	I704F	probably benign	Het
Wdr76	A	G	2: 121,348,216 (GRCm39)	R63G	probably damaging	Het
Zc3h3	T	A	15: 75,648,928 (GRCm39)	S735C	probably damaging	Het
Zfp383	G	A	7: 29,611,615 (GRCm39)	V32M	probably damaging	Het
Zfp810	T	A	9: 22,190,392 (GRCm39)	Y172F	probably benign	Het

Other mutations in Krt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Krt5	APN	15	101,621,076 (GRCm39)	missense	unknown
IGL01949:Krt5	APN	15	101,619,048 (GRCm39)	missense	probably benign	0.14
IGL03013:Krt5	APN	15	101,620,103 (GRCm39)	missense	probably benign	0.00
IGL03286:Krt5	APN	15	101,615,983 (GRCm39)	missense	unknown
R1598:Krt5	UTSW	15	101,620,876 (GRCm39)	missense	probably benign	0.38
R1697:Krt5	UTSW	15	101,619,020 (GRCm39)	missense	probably benign	0.06
R1967:Krt5	UTSW	15	101,620,094 (GRCm39)	missense	probably benign	0.21
R2143:Krt5	UTSW	15	101,620,794 (GRCm39)	missense	probably damaging	1.00
R2438:Krt5	UTSW	15	101,620,093 (GRCm39)	missense	probably benign	0.10
R4633:Krt5	UTSW	15	101,620,042 (GRCm39)	missense	probably damaging	0.98
R4771:Krt5	UTSW	15	101,617,494 (GRCm39)	missense	probably damaging	0.99
R4918:Krt5	UTSW	15	101,618,742 (GRCm39)	missense	probably damaging	1.00
R6797:Krt5	UTSW	15	101,621,076 (GRCm39)	missense	unknown
R6873:Krt5	UTSW	15	101,621,312 (GRCm39)	start gained	probably benign
R7808:Krt5	UTSW	15	101,617,453 (GRCm39)	missense	probably benign	0.01
R8010:Krt5	UTSW	15	101,620,791 (GRCm39)	missense	probably damaging	1.00
R8252:Krt5	UTSW	15	101,620,794 (GRCm39)	missense	probably damaging	1.00
R8696:Krt5	UTSW	15	101,618,742 (GRCm39)	missense	probably damaging	1.00
R8889:Krt5	UTSW	15	101,619,185 (GRCm39)	missense	probably benign	0.01
R8892:Krt5	UTSW	15	101,619,185 (GRCm39)	missense	probably benign	0.01
R9468:Krt5	UTSW	15	101,615,980 (GRCm39)	missense	unknown
R9578:Krt5	UTSW	15	101,620,153 (GRCm39)	missense	probably damaging	0.98
R9696:Krt5	UTSW	15	101,616,141 (GRCm39)	missense	unknown
X0019:Krt5	UTSW	15	101,620,803 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTCTACATTCTGGAGGCCAC -3'
(R):5'- TCCACCACTCACATTAGATACTGAG -3'

Sequencing Primer
(F):5'- TCAAGCACACTACGGCCCTC -3'
(R):5'- ACTGAGTTCGTATACTGAGTTCTTTC -3'

Posted On

2016-11-08